All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - 2708 2390 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more - -
05109 JBTS Joubert syndrome (JBTS) - - 655 602 AHI1, ARL3, ARMC9, B9D1, C5orf42, CEP104, CEP290, MKS1, TCTN2, TMEM67 - -
00609 JBTS17 Joubert syndrome, type 17 (JBTS-17) 614615 AR 1 1 C5orf42 - -
00305 OFD6 orofaciodigital syndrome, type VI (OFD-6) 277170 AR - - C5orf42 - -
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